4.4 Article

Interstitial microdeletion of the 1p34.3p34.2 region

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities

Themistoklis Dagklis et al.

MOLECULAR CYTOGENETICS (2016)

Article Biochemistry & Molecular Biology

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

Mari J. Tokita et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2015)

Article Genetics & Heredity

1p34.3 Deletion Involving GRIK3: Further Clinical Implication of GRIK Family Glutamate Receptors in the Pathogenesis of Developmental Delay

Toshiki Takenouchi et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)

Article Multidisciplinary Sciences

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Erik G. Puffenberger et al.

PLOS ONE (2012)

Article Genetics & Heredity

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

Ravinesh A. Kumar et al.

JOURNAL OF MEDICAL GENETICS (2010)

Article Genetics & Heredity

Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation

Sara Tomaselli et al.

HUMAN MUTATION (2008)

Article Clinical Neurology

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

Sascha Vermeer et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2007)

Article Biochemistry & Molecular Biology

SNIP1 is a candidate modifier of the transcriptional activity of c-Myc on E box-dependent target genes

Makiko Fujii et al.

MOLECULAR CELL (2006)

Article Genetics & Heredity

XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: Genetic analysis in one family

O Radi et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)

Article Genetics & Heredity

Genome-wide scan for linkage to schizophrenia in a Spanish-origin cohort from Costa Rica

LE DeLisi et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2002)

Article Biochemistry & Molecular Biology

SNIP1 inhibits NF-κB signaling by competing for its binding to the C/H1 domain of CBP/p300 transcriptional Co-activators

RH Kim et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)